Duchenne muscular dystrophy

The aim of the foundation is to support the treatment of Dániel Márk Pénzes, who suffers from Duchenne muscular dystrophy.
What do we know about this disease?

Gene therapy for DMD already exists abroad

Duchenne muscular dystrophy is a hereditary disease that is associated with increasing muscle weakness and loss of muscle mass.

Muscle atrophy is caused by a genetic defect – a gene mutation. Only boys develop it, girls are asymptomatic carriers. There is currently no cure for the disease, but a gene therapy is available in the US and Dubai to stop further deterioration. 

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How can you recognise it?
He condition is very difficult to recognise before the age of one: the child may be a little behind in motor skills development, but this is often not obvious to parents.

The symptoms become more evident at a later stage. Parents usually notice in their 1-3 year old son that

  • have difficulty getting up from a sitting or lying position;
  • often falls;
  • is clumsy;
  • tiptoes;
  • shuffles;
  • stands up on his knees;
  • muscle weakness also affects your posture, your gait, your running;
  • learn to speak later;
  • can only climb stairs with help;
  • has enlarged calves;
  • has muscle pain and stiffness;
  • has joint movements may also be limited – due to shortening of the muscles;
  • behavioural problems, learning difficulties;
  • can later develop myocardial involvement can also affect heart function;
  • may develop breathing difficulties as the muscles become weaker.
    • REASONS FOR BEING SO RARE
    The disease is caused by the faulty DMD gene. This gene codes for a protein called dystrophin, which is necessary for the regeneration of muscles and the formation of the normal structure of muscles. In the case of a mutation, a defective dystrophin protein is produced, or no protein is produced at all, which leads to the death of muscle fibers. Muscle is replaced by fatty tissue and connective tissue. The child can inherit the faulty gene, or in a third of cases it develops randomly in the child. The disease is inherited linked to the X-chromosome, so the defective gene is passed on by the mother. Women affected by the disease carry the faulty DMD gene without symptoms and have a 50% chance of having a boy.
    Complications

    The complications of the disease are as follows:

  • walking problems, around the age of 12-13 the child is forced into a wheelchair;
  • due to the atrophy of the shoulders and charisma, everyday activities besides walking become difficult over time;
  • joint movement restriction – contracture – may develop due to the shortening of the muscles and tendons around the joint, which further increases the limitation of movement;
  • breathing problems develop due to the weakness of the respiratory muscles, so the child needs mechanical ventilation by the end of his teenage years, the beginning of his 20s;
  • a large degree of scoliosis develops due to the weakness of the muscles near the spine;
  • development of heart problems by their mid-teens;
  • if the muscles of the esophagus are affected, swallowing difficulties develop, which leads to nutritional disorders and the development of aspiration pneumonia, therefore artificial nutrition will be necessary;
  • patients usually die before the age of 30 or in their thirties from the effects of heart or respiratory problems.
    • Source in Hungarian: https://egeszsegvonal.gov.hu/
    About treatment
    There are symptomatic treatments for DMD, which can be used to slow down the deterioration. Daily high-dose steroid, various physical exercises, stretching. Plastic boots that stretch the Achilles tendon while you sleep, food supplements and similar not very pleasant things, but there was no specific medicine until now.

    A gene therapy is now available in America and Dubai, which has already been officially approved by the authorities there. This gene therapy “teaches” children’s bodies to produce a shorter but functional protein than the missing dystrophin protein.

    The treatment cannot reverse the damage that has already occurred, but it will stop the deterioration described above. For this reason it is critical that Márk receives treatment in time, at a young age as possible.

    The treatment comes with and extremely high price tag: 2.6 million Euros

    That’s why we created the foundation, and that’s why we’re asking for your help!
    I will help you